A53D (p.Ala53Asp) variant of AGTRAP (Q6RW13)
A53D (p.Ala53Asp) in AGTRAP (Q6RW13) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A53D (p.Ala53Asp) variant details
- p.Ala53Asp
- gnomAD 1-11747535-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available